Varaico: Literature-Extracted Genetic Variants

Gene:HSF4
Variant:p.R130C
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HSF4

NM_001374675.1:p.R130C

Associated Papers

Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in the LIM2 gene in four Chinese families with congenital cataracts.

Wang X et al.

Annals of Translational Medicine, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."